Mutagenetix > Incidental Mutation

Incidental Mutation 'R5659:Ppp1r37'

443974

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r37

Ensembl Gene

ENSMUSG00000051403

Gene Name

protein phosphatase 1, regulatory subunit 37

Synonyms

Lrrc68

MMRRC Submission

043303-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R5659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19264725-19297001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19269448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 145 (V145M)

Ref Sequence

ENSEMBL: ENSMUSP00000060233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058444]

AlphaFold

Q8BKR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000058444
AA Change: V145M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060233
Gene: ENSMUSG00000051403
AA Change: V145M

Domain	Start	End	E-Value	Type
low complexity region	7	38	N/A	INTRINSIC
Blast:LRR	139	166	1e-9	BLAST
LRR	224	251	1.77e2	SMART
LRR	252	280	3.52e-1	SMART
LRR	281	308	8.27e-7	SMART
LRR	310	337	3.05e1	SMART
LRR	338	365	1.4e-4	SMART
LRR	366	393	1.56e-2	SMART
LRR	394	421	2.36e-2	SMART
low complexity region	504	540	N/A	INTRINSIC
low complexity region	566	574	N/A	INTRINSIC
low complexity region	596	628	N/A	INTRINSIC
low complexity region	660	679	N/A	INTRINSIC
low complexity region	696	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209190

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	T	C	18: 36,694,103 (GRCm39)	S105P	probably damaging	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Ap3b2	T	A	7: 81,126,500 (GRCm39)	I367F	probably damaging	Het
Apaf1	A	T	10: 90,898,015 (GRCm39)	C247*	probably null	Het
Aqp8	G	A	7: 123,065,889 (GRCm39)	W228*	probably null	Het
Arhgap32	T	A	9: 32,093,256 (GRCm39)	V178D	probably damaging	Het
Atp10b	T	A	11: 43,136,252 (GRCm39)	W1127R	probably damaging	Het
Bcl6	A	T	16: 23,787,159 (GRCm39)	C580*	probably null	Het
Brd1	T	C	15: 88,597,584 (GRCm39)	T568A	probably benign	Het
Brsk1	C	T	7: 4,718,371 (GRCm39)	P665L	possibly damaging	Het
Cblc	A	G	7: 19,526,857 (GRCm39)	L125P	probably damaging	Het
Ccdc87	T	C	19: 4,890,878 (GRCm39)	S457P	probably damaging	Het
Cxcr5	C	T	9: 44,424,690 (GRCm39)	M322I	probably benign	Het
Cyb5r4	T	A	9: 86,937,881 (GRCm39)	F300Y	probably benign	Het
Cyp3a25	T	C	5: 145,928,356 (GRCm39)	T230A	possibly damaging	Het
Dhx9	A	G	1: 153,347,481 (GRCm39)	V409A	probably damaging	Het
Dnah7b	A	G	1: 46,392,009 (GRCm39)	D3790G	probably damaging	Het
Gin1	A	G	1: 97,703,257 (GRCm39)	T27A	possibly damaging	Het
Gipc1	A	T	8: 84,390,755 (GRCm39)	M287L	probably benign	Het
Kat6a	T	A	8: 23,428,176 (GRCm39)	L1177*	probably null	Het
Klhl20	A	G	1: 160,918,040 (GRCm39)	V82A	probably damaging	Het
Kmt2e	T	C	5: 23,702,805 (GRCm39)	I995T	probably damaging	Het
Lpin1	A	T	12: 16,590,990 (GRCm39)	V814E	probably damaging	Het
Luzp1	T	A	4: 136,269,787 (GRCm39)	V670D	probably damaging	Het
Lyst	C	A	13: 13,809,212 (GRCm39)	A294E	possibly damaging	Het
Olr1	T	A	6: 129,476,992 (GRCm39)	E91V	probably damaging	Het
Or1j1	A	T	2: 36,702,966 (GRCm39)	I46N	probably damaging	Het
Or2k2	A	T	4: 58,785,672 (GRCm39)	F17I	probably damaging	Het
Or8b55	C	T	9: 38,727,072 (GRCm39)	T91I	probably benign	Het
Pam	T	C	1: 97,770,024 (GRCm39)	Y476C	probably damaging	Het
Pcdhac1	T	C	18: 37,225,470 (GRCm39)	L761P	probably damaging	Het
Phf21b	C	T	15: 84,678,101 (GRCm39)	W300*	probably null	Het
Pld2	T	C	11: 70,448,387 (GRCm39)	*945Q	probably null	Het
Rasgrf1	T	A	9: 89,866,342 (GRCm39)	N593K	probably damaging	Het
Rhot1	T	G	11: 80,141,181 (GRCm39)		probably null	Het
Rmnd1	A	T	10: 4,377,382 (GRCm39)	M99K	probably benign	Het
Ros1	G	A	10: 52,019,482 (GRCm39)	T697I	possibly damaging	Het
Scgb1b10	G	T	7: 31,800,303 (GRCm39)	A4S	probably benign	Het
Shc3	T	C	13: 51,670,630 (GRCm39)	Y39C	probably damaging	Het
Slc25a23	A	G	17: 57,352,500 (GRCm39)		probably benign	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Sqor	G	A	2: 122,629,523 (GRCm39)	C127Y	probably benign	Het
Sv2a	G	C	3: 96,097,619 (GRCm39)	W467S	possibly damaging	Het
Togaram2	G	T	17: 71,994,667 (GRCm39)	D39Y	probably damaging	Het
Tspan11	T	A	6: 127,915,240 (GRCm39)		probably null	Het
Usp32	A	G	11: 84,968,240 (GRCm39)	V141A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,473 (GRCm39)	H537R	probably damaging	Het
Zfat	T	C	15: 67,990,862 (GRCm39)	Y1008C	probably damaging	Het
Zfp637	G	A	6: 117,820,291 (GRCm39)	G3E	probably damaging	Het
Zfp788	T	A	7: 41,299,540 (GRCm39)	Y673*	probably null	Het
Zhx2	T	C	15: 57,685,704 (GRCm39)	S358P	probably benign	Het

Other mutations in Ppp1r37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0313:Ppp1r37	UTSW	7	19,267,923 (GRCm39)	missense	probably damaging	1.00
R0718:Ppp1r37	UTSW	7	19,266,179 (GRCm39)	missense	probably benign
R0883:Ppp1r37	UTSW	7	19,266,102 (GRCm39)	missense	probably benign	0.01
R1606:Ppp1r37	UTSW	7	19,268,924 (GRCm39)	missense	probably damaging	0.97
R2220:Ppp1r37	UTSW	7	19,266,371 (GRCm39)	missense	probably null	0.43
R2256:Ppp1r37	UTSW	7	19,295,943 (GRCm39)	unclassified	probably benign
R2257:Ppp1r37	UTSW	7	19,295,943 (GRCm39)	unclassified	probably benign
R2325:Ppp1r37	UTSW	7	19,266,609 (GRCm39)	missense	probably damaging	1.00
R2510:Ppp1r37	UTSW	7	19,266,357 (GRCm39)	missense	possibly damaging	0.79
R3401:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	probably damaging	0.99
R3402:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	probably damaging	0.99
R4006:Ppp1r37	UTSW	7	19,268,994 (GRCm39)	missense	probably damaging	1.00
R4750:Ppp1r37	UTSW	7	19,265,445 (GRCm39)	missense	probably benign
R4956:Ppp1r37	UTSW	7	19,266,636 (GRCm39)	nonsense	probably null
R5156:Ppp1r37	UTSW	7	19,295,900 (GRCm39)	unclassified	probably benign
R5582:Ppp1r37	UTSW	7	19,266,219 (GRCm39)	missense	probably damaging	1.00
R5918:Ppp1r37	UTSW	7	19,266,036 (GRCm39)	missense	probably benign	0.02
R6172:Ppp1r37	UTSW	7	19,266,329 (GRCm39)	missense	possibly damaging	0.93
R6659:Ppp1r37	UTSW	7	19,266,048 (GRCm39)	missense	probably benign	0.00
R7626:Ppp1r37	UTSW	7	19,295,778 (GRCm39)	missense	probably damaging	0.99
R7779:Ppp1r37	UTSW	7	19,266,712 (GRCm39)	missense	possibly damaging	0.81
R7785:Ppp1r37	UTSW	7	19,265,996 (GRCm39)	missense	probably damaging	1.00
R7819:Ppp1r37	UTSW	7	19,267,989 (GRCm39)	missense	probably damaging	1.00
R7965:Ppp1r37	UTSW	7	19,265,868 (GRCm39)	missense	probably damaging	0.99
R8185:Ppp1r37	UTSW	7	19,266,873 (GRCm39)	missense	probably damaging	1.00
R9125:Ppp1r37	UTSW	7	19,269,014 (GRCm39)	missense	probably benign	0.12
R9224:Ppp1r37	UTSW	7	19,265,729 (GRCm39)	missense	probably damaging	0.98
R9417:Ppp1r37	UTSW	7	19,269,658 (GRCm39)	missense	probably damaging	0.98
R9453:Ppp1r37	UTSW	7	19,295,796 (GRCm39)	missense	probably damaging	0.99
R9777:Ppp1r37	UTSW	7	19,295,783 (GRCm39)	missense	probably benign	0.23
Z1177:Ppp1r37	UTSW	7	19,268,997 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGTGTGACAGCCAGGATAGC -3'
(R):5'- CTGAAAGGTATGTGTCCCCAAG -3'

Sequencing Primer
(F):5'- TGACAGCCAGGATAGCTCTTG -3'
(R):5'- GTATGTGTCCCCAAGGATAGC -3'

Posted On

2016-11-09